TSC1
Associated conditions:
- Nervous system/brain cancer
- Pancreatic cancer
- Renal/urinary tract cancer
TSC1 makes hamartin, which teams up with a partner protein to restrain the mTOR pathway that controls cell size and growth. Genetic changes in this gene are associated with an autosomal dominant condition called tuberous sclerosis, with benign tumours in the brain, kidneys, heart, and skin. Knowing your genetic status enables surveillance and mTOR-blocking medicines that can prevent seizures and organ damage.
Conditions linked to TSC1
Nervous system/brain cancer
Cancers of the nervous system and brain arise in the brain, spinal cord or their supporting tissues. Some inherited syndromes raise the risk of these tumours, so awareness supports prompt assessment of new neurological symptoms and, where indicated, imaging surveillance.
Pancreatic cancer
Pancreatic cancer arises in the pancreas and is often found late. Some inherited variants raise its risk, so carriers may be offered specialist surveillance (MRI or endoscopic ultrasound), which aims to catch changes at a more treatable stage.
Renal/urinary tract cancer
Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.
